Genomic Precision

 A SeraCare blog focused on precision medicine and advanced clinical diagnostics

Reliable Interpretation of NGS Data: New Poster Talk Video

Posted by Cynthia Hendrickson, CEO Directed Genomics on Feb 1, 2018 8:00:00 AM

The ability to rapidly and effectively evaluate the performance of customized next-generation sequencing (NGS) panels is critical to provide high-quality sequencing solutions to customers. New England Biolabs®, together with Directed Genomics®, is developing a new offering, NEBNext Direct® Custom Ready Panels, which will allow researchers to select from a large library of genes for which baits have been developed and optimized, thus enabling rapid deployment of customized target-enrichment panels. Directed Genomics has been collaborating with SeraCare Life Sciences in order to streamline the optimization and characterization of NEBNext Direct target enrichment panels. 

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Topics: reference materials, NGS reference materials, NGS, SeraSeq, NGS assays, Variant Allele Frequencies, highly-multiplexed reference material, AMP2017

AMP Reference Material Forum: Themes and Highlights

Posted by Catherine Huang on Dec 22, 2017 12:30:00 PM

On November 14, 2017, AMP hosted a forum to discuss genetic testing reference material availability and needs. The forum attracted attendees including EQA providers, developers in industry and government, as well as scientists from clinical laboratories. Topics for discussion included reference material use and needs for assay validation, quality control, and proficiency testing. Throughout the talks, a few themes emerged and were discussed by multiple speakers.

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Topics: AMP2017, reference materials, Clinical Genetic Testing

AMP 2017 Highlights: The Epigenetic Basis of Common Human Disease

Posted by Catherine Huang on Nov 30, 2017 1:30:00 PM

The Association for Molecular Pathology Meeting (AMP) was held this year in Salt Lake City, Utah on November 15-18.  For me, one of the highlights of this year’s meeting was the lecture given by Dr. Andy Feinberg, who is a professor at Johns Hopkins University School of Medicine Center for Epigenetics and the winner of the AMP award for Excellence in Molecular Genetics.

Dr. Feinberg spoke on “The Epigenetic Basis of Common Human Disease.”  He defined epigenetic changes as stable, heritable, modifications of the genome that are not based on actual sequence changes.  These epigenetic changes can be modifications of either the DNA, or the DNA associated factors that are maintained through cell division.  Examples include DNA methylation, particularly at CpG islands, histone tail modifications, nucleosome remodeling and changes in higher order chromatin structure (such as compaction). 

Stochasticity mosaic painting by Andy Feinberg, after a portrait of Conrad Waddington by Ruth Collet,
was featured on the cover of Nature Genetics May 2017 Volume 49 No 5
. 

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Topics: AMP2017, Epigenetics, Common Human Diseases, Genetics, Molecular Genetics

 
 

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